Variant #0000129122 (NC_000011.9:g.2679858_2739436del, KCNQ1(NM_000218.2):c.1394-3333_1515-50638del)

Individual ID 00080096
Chromosome 11
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.2679858_2739436del
DNA change (hg38) g.2658628_2718206del
Published as arr[hg19] 11p15.5 (2,684,979-2,737,280)x1 pat
ISCN arr[hg19] 11p15.5 (2,684,979-2,737,280)x1 pat.seq 11p15.5(2,679,858-2,739,436)del
DB-ID KCNQ1_000755
Variant remarks -
Reference PubMed: Crescenzo 2013, for EUCID-SRS consortium
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Zeynep Tümer
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNQ1 NM_000218.2 ?/. - c.1394-3333_1515-50638del r.? p.?
KCNQ1OT1 NR_002728.2 ?/. - n.-18208_41371del r.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000080184 DNA arrayCNV; FISH; SEQ - - - 1 Zeynep Tümer